Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency

…, D Ailani, H Bui, A van Rens… - Disease Models & …, 2023 - journals.biologists.com
Heterozygous variants in GBA1, encoding glucocerebrosidase (GCase), are the most
common genetic risk factor for Parkinson's disease (PD). Moreover, sporadic PD patients also …

Translational validation of shotgun proteomics findings in cerebrospinal fluid of sporadic cerebral amyloid angiopathy patients

M Vervuurt, AM de Kort, I Kersten, A Rens, CJM Klijn… - bioRxiv, 2024 - biorxiv.org
Background: Prior research conducted in model rats of CAA Type 1 (rTg-DI) identified a range
of cerebrospinal fluid biomarker candidates associated with sCAA pathology. This list of …

[PDF][PDF] Unexpected opposing biological effect of genetic risk factors for Parkinson's disease

…, N Li, M Dunning, D Ailani, H Bui, A van Rens… - bioRxiv, 2020 - scholar.archive.org
The additive effect of genetic risk variants on disease risk is a popular but typically unproven
hypothesis. We investigated this hypothesis mechanistically for Parkinson’s disease risk …

Acid Sphingomyelinase Deficiency Normalizes Neuronal Function in GCase Deficiency-Unexpected Biological Rescue Effect of Combined Genetic Risk Factors for …

…, L Watson, H Mortiboys, H Bui, D Lefeber, A Van Rens… - 2020 - researchsquare.com
Background The additive mechanistic effect of genetic risk variants for Parkinson’s disease (PD)
is a plausible but largely unproven hypothesis. We investigated the mechanistic …

Loss of acid sphingomyelinase ameliorates disease progression in a vertebrate model of Glucocerebrosidase deficiency

…, ME Gegg, L Watson, H Mortiboys, H Bui, A van Rens… - bioRxiv, 2019 - biorxiv.org
Biallelic glucocerebrosidase (GBA) mutations cause the lysosomal storage disorder Gaucher
disease (GD), while heterozygous GBA variants are the strongest and most common …

Prevalence and pattern of geographic atrophy in Asia: the Asian Eye Epidemiology Consortium

…, H Yamashita, P Sundaresan, JC Chan, G van Rens… - Ophthalmology, 2020 - Elsevier
Purpose Although there have been many population-based studies of age-related macular
degeneration (AMD), only limited information is available in Asia on the epidemiology of …

“This Ain't the Way It's S'posed to Be”: Negotiating Trauma Through Postmemory and Implication in Yaa Gyasi's Homegoing

D van Rens - English Studies, 2023 - Taylor & Francis
This paper examines how the negotiation of the traumas of slavery and its legacies in Yaa
Gyasi’s Homegoing (2016) deviates from traditional trauma literature in terms of its form and …

[HTML][HTML] Donor-derived cell-free DNA detects kidney transplant rejection during nivolumab treatment

…, CC Baan, JH von der Thüsen, RHN van Schaik… - … for immunotherapy of …, 2019 - Springer
… We thank Nadine van Donk and Evert de Jonge for direct and excellent processing of dd-cfDNA,
and Marjolein Dieterich and Rens Kraaijeveld for help with the flow cytometry …

[HTML][HTML] Optimization of Preoperative Lymph Node Staging in Patients with Muscle-Invasive Bladder Cancer Using Radiomics on Computed Tomography

…, ACM van de Luijtgaarden, HHE van Melick… - Journal of personalized …, 2022 - mdpi.com
Approximately 25% of the patients with muscle-invasive bladder cancer (MIBC) who are
clinically node negative have occult lymph node metastases at radical cystectomy (RC) and …

Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants

TMA Peters, I Lammerts van Bueren… - JIMD …, 2021 - Wiley Online Library
… The authors would like to thank Frans van den Brandt, Saskia van der Velde-Visser, and
Marlie HM Jacobs-Camps for their work in culturing the fibroblasts and Astrid van Rens for …